Variant report

Variant	rs7977598
Chromosome Location	chr12:117450488-117450489
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:117439692..117442558-chr12:117449975..117451489,2	K562	blood:
2	chr12:117446881..117449437-chr12:117449689..117452192,3	K562	blood:
3	chr12:117442427..117445023-chr12:117448481..117451118,2	K562	blood:
4	chr12:117447732..117449605-chr12:117449689..117452738,3	K562	blood:

Extended variants
information (count: 83 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10507277	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10507278	0.93[EUR][1000 genomes]
rs10732611	0.87[ASN][1000 genomes]
rs10735099	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10735102	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10735103	0.80[YRI][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10744885	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10744886	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10774892	0.87[ASN][1000 genomes]
rs10774893	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10774896	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10850731	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10850737	0.83[EUR][1000 genomes]
rs10850743	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11068264	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11068277	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11068296	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12299065	0.82[EUR][1000 genomes]
rs12821492	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2133684	0.80[ASN][1000 genomes]
rs2242469	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2270794	0.82[EUR][1000 genomes]
rs2393110	0.85[ASN][1000 genomes]
rs2393111	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3893370	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4074147	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4076700	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4077519	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4130296	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4299000	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4522274	0.87[ASN][1000 genomes]
rs4542506	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4562925	0.87[ASN][1000 genomes]
rs4562926	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4562927	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4766812	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4766814	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4766815	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4766818	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4766820	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4766821	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4766822	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4767474	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4767476	0.86[ASN][1000 genomes]
rs4767478	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4767480	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4767482	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4767483	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4767484	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4767485	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4767487	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4767488	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4767489	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4767491	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4767493	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60940473	0.82[EUR][1000 genomes]
rs6490102	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7131746	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7137006	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7137752	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7297155	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7297848	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7298447	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7302025	0.82[EUR][1000 genomes]
rs7303882	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7308498	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7308734	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7311972	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7316144	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73403241	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7484620	0.82[ASN][1000 genomes]
rs7952766	0.87[ASN][1000 genomes]
rs7954824	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7957907	0.82[EUR][1000 genomes]
rs7958030	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7959666	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7962339	0.91[EUR][1000 genomes]
rs7973240	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7976815	0.87[ASN][1000 genomes]
rs9804817	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832524	chr12:117314110-117496576	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv519118	chr12:117386085-117521180	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv899541	chr12:117414974-117497066	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7977598	FBXW8	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117387800-117463600	Weak transcription	HMEC	breast
2	chr12:117393800-117471000	Weak transcription	Small Intestine	intestine
3	chr12:117408400-117452200	Weak transcription	Thymus	Thymus
4	chr12:117411600-117451800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr12:117417200-117452400	Weak transcription	Psoas Muscle	Psoas
6	chr12:117417400-117453600	Weak transcription	GM12878-XiMat	blood
7	chr12:117426200-117466600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr12:117437400-117451600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr12:117440400-117452200	Weak transcription	Brain Cingulate Gyrus	brain
10	chr12:117441200-117451200	Weak transcription	Fetal Brain Female	brain
11	chr12:117443800-117452000	Weak transcription	Fetal Heart	heart
12	chr12:117443800-117461600	Weak transcription	Colonic Mucosa	Colon
13	chr12:117444000-117450800	Weak transcription	Fetal Kidney	kidney
14	chr12:117444000-117462800	Weak transcription	K562	blood
15	chr12:117444400-117451800	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr12:117444400-117452200	Weak transcription	Brain Angular Gyrus	brain
17	chr12:117444600-117451800	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr12:117444600-117452200	Weak transcription	Esophagus	oesophagus
19	chr12:117444600-117452400	Weak transcription	Aorta	Aorta
20	chr12:117444600-117452400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr12:117444600-117452400	Weak transcription	Left Ventricle	heart
22	chr12:117444600-117452400	Weak transcription	Rectal Smooth Muscle	rectum
23	chr12:117445400-117452400	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr12:117445600-117452200	Weak transcription	HepG2	liver
25	chr12:117445800-117452200	Weak transcription	Dnd41	blood
26	chr12:117445800-117452600	Weak transcription	Gastric	stomach
27	chr12:117446000-117452400	Weak transcription	HSMM	muscle
28	chr12:117446200-117450800	Weak transcription	HUVEC	blood vessel
29	chr12:117447000-117450800	Strong transcription	Fetal Stomach	stomach
30	chr12:117447000-117454200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr12:117447200-117450600	Strong transcription	Primary hematopoietic stem cells	blood
32	chr12:117447400-117450800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr12:117447400-117451400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr12:117447400-117451800	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr12:117447400-117454000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr12:117447400-117454200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr12:117447400-117454800	Strong transcription	Primary T cells fromperipheralblood	blood
38	chr12:117447600-117450600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr12:117447600-117450800	Strong transcription	Primary B cells from peripheral blood	blood
40	chr12:117447600-117451800	Strong transcription	Fetal Lung	lung
41	chr12:117447800-117450800	Strong transcription	Duodenum Smooth Muscle	Duodenum
42	chr12:117447800-117451000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr12:117448000-117450800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr12:117448000-117451000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr12:117448000-117451000	Strong transcription	Fetal Intestine Large	intestine
46	chr12:117448200-117450600	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr12:117448200-117451200	Strong transcription	A549	lung
48	chr12:117448400-117450800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr12:117448400-117451000	Strong transcription	Fetal Muscle Trunk	muscle
50	chr12:117448400-117451200	Strong transcription	Liver	Liver

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